Genetically Guided Precision Medicine Clinical Decision Support Tools: A Systematic Review

Abstract

ObjectivePatient care using genetics presents complex challenges. Clinical decision support (CDS) tools are a potential solution because they provide patient-specific risk assessments and/or recommendations at the point of care. This systematic review evaluated literature on CDS systems which have been implemented to support genetically guided precision medicine (GPM). Materials and MethodsA comprehensive search was conducted in MEDLINE and Embase, encompassing Jan 1st, 2011 to March 14th, 2023. The review included primary English peer-reviewed research articles studying humans, focused on use of computers to guide clinical decision making and delivering genetically guided, patient-specific assessments and/or recommendations to healthcare providers and/or patients. ResultsThe search yielded 3,832 unique articles. After screening, 41 articles were identified that met the inclusion criteria. Alerts and reminders were the most common form of CDS used. 27 systems were integrated with the electronic health record; 2 of those used standards-based approaches for genomic data transfer. Three studies used a framework to analyze the implementation strategy. DiscussionFindings include limited use of standards-based approaches for genomic data transfer, system evaluations that do not employ formal frameworks, and inconsistencies in the methodologies used to assess genetic CDS systems and their impact on patient outcomes. ConclusionWe recommend that future research on CDS system implementation for genetically guided precision medicine should focus on implementing more CDS systems, utilization of standards-based approaches, user-centered design, exploration of alternative forms of CDS interventions, and use of formal frameworks to systematically evaluate genetic CDS systems and their effects on patient care.